Beyond base pairs to bedside: a population perspective on how genomics can improve health.

1Office of Public Health Genomics, Centers for Disease Control and Prevention, Atlanta, GA 30333, USA. muk1@cdc.gov

Abstract

A decade after the sequencing of the human genome, the National Human Genome Research Institute announced a strategic plan for genomic medicine. It calls for evaluating the structure and biology of genomes, understanding the biology of disease, advancing the science of medicine, and improving the effectiveness of health care. Fulfilling the promise of genomics urgently requires a population perspective to complement the bench-to-bedside model of translation. A population approach should assess the contribution of genomics to health in the context of social and environmental determinants of disease; evaluate genomic applications that may improve health care; design strategies for integrating genomics into practice; address ethical, legal, and social issues; and measure the population health impact of new technologies.

A framework for multidisciplinary research in genomics and health beyond bench to bedside, with green representing the first phase of translation (T1) and blue representing the second phase of translation (T2–T4), with a feedback loop to basic science discoveries (T0).Source. Adapted from Khoury et al. 2